NM_015295.3(SMCHD1):c.4040A>G (p.Tyr1347Cys) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 28, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000594427.4
Allele description [Variation Report for NM_015295.3(SMCHD1):c.4040A>G (p.Tyr1347Cys)]
NM_015295.3(SMCHD1):c.4040A>G (p.Tyr1347Cys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 1, 2023